ClinVar Miner

List of variants reported as benign for Chondrocalcinosis 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.*1271A>C rs25990 0.99568
NM_054027.6(ANKH):c.*2107A>G rs25991 0.99530
NM_054027.6(ANKH):c.*3706G>A rs25992 0.94776
NM_054027.6(ANKH):c.*3928C>T rs27911 0.87166
NM_054027.6(ANKH):c.*5641A>G rs26307 0.71463
NM_054027.6(ANKH):c.1011+15T>G rs187483 0.20625
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667 0.13744
NM_054027.6(ANKH):c.*31A>G rs3045 0.09134
NM_054027.6(ANKH):c.313+9G>A rs73048890 0.07896
NM_054027.6(ANKH):c.*3900T>C rs76635089 0.07153
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474 0.06312
NM_054027.6(ANKH):c.*510C>T rs17364066 0.06225
NM_054027.6(ANKH):c.-4G>A rs78431233 0.05430
NM_054027.6(ANKH):c.*3899T>C rs559763037 0.04947
NM_054027.6(ANKH):c.*4672G>A rs61502042 0.02679
NM_054027.6(ANKH):c.*561C>T rs116140147 0.02462
NM_054027.6(ANKH):c.*4182T>G rs13358074 0.02029
NM_054027.6(ANKH):c.*4244T>A rs137905502 0.01911
NM_054027.6(ANKH):c.1265+6T>C rs114529889 0.01616
NM_054027.6(ANKH):c.*2119C>T rs150130025 0.01502
NM_054027.6(ANKH):c.*3628T>C rs141052195 0.01460
NM_054027.6(ANKH):c.*3420T>C rs79059123 0.01452
NM_054027.6(ANKH):c.*580C>T rs192753009 0.01397
NM_054027.6(ANKH):c.*283C>T rs36072175 0.01320
NM_054027.6(ANKH):c.*4251T>C rs77573132 0.01317
NM_054027.6(ANKH):c.*925T>C rs115929672 0.01275
NM_054027.6(ANKH):c.*4624A>C rs78550928 0.01160
NM_054027.6(ANKH):c.*3543G>T rs114164305 0.01111
NM_054027.6(ANKH):c.*5759G>C rs116362523 0.01091
NM_054027.6(ANKH):c.*6226G>A rs116590750 0.01087
NM_054027.6(ANKH):c.*4513G>A rs148211290 0.00949
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955 0.00943
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706 0.00903
NM_054027.6(ANKH):c.*4219T>C rs147322366 0.00820
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_054027.6(ANKH):c.432+13G>A rs112742497 0.00728
NM_054027.6(ANKH):c.*5895C>A rs141264056 0.00653
NM_054027.6(ANKH):c.*724A>C rs141576604 0.00627
NM_054027.6(ANKH):c.*6386G>C rs145195435 0.00582
NM_054027.6(ANKH):c.*6163A>G rs182300014 0.00411
NM_054027.6(ANKH):c.*1008C>G rs143400303 0.00394
NM_054027.6(ANKH):c.*5662C>T rs190396675 0.00384
NM_054027.6(ANKH):c.*1814G>A rs183138464 0.00367
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00329
NM_054027.6(ANKH):c.*2543G>C rs143619241 0.00325
NM_054027.6(ANKH):c.1332C>T (p.Val444=) rs139351002 0.00309
NM_054027.6(ANKH):c.1453G>A (p.Val485Met) rs143550972 0.00304
NM_054027.6(ANKH):c.*5518C>T rs143143398 0.00280
NM_054027.6(ANKH):c.*831T>C rs182130104 0.00267
NM_054027.6(ANKH):c.*52G>A rs369937597 0.00200
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380 0.00173
NM_054027.6(ANKH):c.-252C>T rs530246274 0.00168
NM_054027.6(ANKH):c.*1988C>G rs552146695 0.00167
NM_054027.6(ANKH):c.*2699G>C rs569690245 0.00145
NM_054027.6(ANKH):c.*2714T>C rs141202503 0.00086
NM_054027.6(ANKH):c.*5459C>T rs79739542 0.00083
NM_054027.6(ANKH):c.*11G>A rs111369645 0.00081
NM_054027.6(ANKH):c.369G>A (p.Ser123=) rs145463643 0.00078
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394 0.00074
NM_054027.6(ANKH):c.*1711C>A rs75139257 0.00066
NM_054027.6(ANKH):c.*3627G>A rs149815187 0.00066
NM_054027.6(ANKH):c.*2392G>T rs185488764 0.00059
NM_054027.6(ANKH):c.*349A>G rs146084864 0.00059
NM_054027.6(ANKH):c.*706C>T rs150916853 0.00051
NM_054027.6(ANKH):c.*2200T>C rs191334359 0.00046
NM_054027.6(ANKH):c.*4351C>T rs141209810 0.00041
NM_054027.6(ANKH):c.915+14C>T rs140045509 0.00032
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00030
NM_054027.6(ANKH):c.*819T>G rs186783503 0.00029
NM_054027.6(ANKH):c.*840G>C rs568699300 0.00029
NM_054027.6(ANKH):c.1021G>A (p.Val341Met) rs199664007 0.00029
NM_054027.6(ANKH):c.314-13C>T rs201856062 0.00016
NM_054027.6(ANKH):c.*5768T>C rs145549693 0.00015
NM_054027.6(ANKH):c.*433G>A rs189866379 0.00012
NM_054027.6(ANKH):c.*4428T>C rs563509166 0.00012
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018 0.00009
NM_054027.6(ANKH):c.1365+13C>T rs377704922 0.00009
NM_054027.6(ANKH):c.*2262G>T rs537181523 0.00006
NM_054027.6(ANKH):c.*914A>C rs556791755 0.00005
NM_054027.6(ANKH):c.1012-11T>G rs576472902 0.00005
NM_054027.6(ANKH):c.1272C>T (p.His424=) rs201295416 0.00004
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199 0.00004
NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp) rs761349696 0.00002
NM_054027.6(ANKH):c.1365+9G>A rs771866688 0.00002
NM_054027.6(ANKH):c.*2511C>T rs575930682 0.00001
NM_054027.6(ANKH):c.*3698T>A rs563873078 0.00001
NM_054027.6(ANKH):c.1278G>A (p.Ala426=) rs568804732 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_054027.6(ANKH):c.*1192G>C rs138050705
NM_054027.6(ANKH):c.*4268C>A rs150706862
NM_054027.6(ANKH):c.*712G>C rs370243294

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.